Hypertrophic neuropathy and cataract

MedGen UID:: 344602
•Concept ID:: C1855885
•: Disease or Syndrome

Synonym:	Hypertrophic Neuropathy And Cataract

Monarch Initiative:	MONDO:0009407
OMIM®:	239900

Clinical features

From HPO

Peripheral neuropathy

MedGen UID:: 18386
•Concept ID:: C0031117
•: Disease or Syndrome

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.

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Increased CSF protein concentration

MedGen UID:: 329971
•Concept ID:: C1806780
•: Finding

Increased concentration of protein in the cerebrospinal fluid.

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Distal sensory impairment

MedGen UID:: 335722
•Concept ID:: C1847584
•: Finding

An abnormal reduction in sensation in the distal portions of the extremities.

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Cataract

MedGen UID:: 39462
•Concept ID:: C0086543
•: Disease or Syndrome

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

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Abnormality of the eye
- Cataract
Abnormality of the nervous system

Recent clinical studies

Etiology

Fabry disease due to G171S GLA mutation: An atypical small nerve fiber sparing variant?

Prencipe M, Posarelli C, Figus M, Gabbriellini G
Eur J Ophthalmol 2021 Nov;31(6):NP53-NP57. Epub 2020 Jun 25 doi: 10.1177/1120672120939496. PMID: 32586128

Left ventricular function in type 2 diabetes patients without cardiac symptoms in Zaria, Nigeria.

Danbauchi SS, Anumah FE, Alhassan MA, David SO, Onyemelukwe GC, Oyati IA
Ethn Dis 2005 Autumn;15(4):635-40. PMID: 16259487

Differential occurrence of mutations causative of eye diseases in the Chinese population.

Pang CP, Lam DS
Hum Mutat 2002 Mar;19(3):189-208. doi: 10.1002/humu.10053. PMID: 11857735

See all (3)

Diagnosis

Fabry disease due to G171S GLA mutation: An atypical small nerve fiber sparing variant?

Prencipe M, Posarelli C, Figus M, Gabbriellini G
Eur J Ophthalmol 2021 Nov;31(6):NP53-NP57. Epub 2020 Jun 25 doi: 10.1177/1120672120939496. PMID: 32586128

Differential occurrence of mutations causative of eye diseases in the Chinese population.

Pang CP, Lam DS
Hum Mutat 2002 Mar;19(3):189-208. doi: 10.1002/humu.10053. PMID: 11857735

hypertrophic interstitial neuropathy and cataracts.

Gold GN, Hogenhuis LA
Neurology 1968 Jun;18(6):526-33. doi: 10.1212/wnl.18.6.526. PMID: 4298845

See all (3)